Canonical Allele Identifier: CA2584878567

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099485-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099485C>G , CM000681.2:g.4099485C>G	GRCh38
NC_000019.9:g.4099483C>G , CM000681.1:g.4099483C>G	GRCh37
NC_000019.8:g.4050483C>G	NCBI36
NG_007996.1:g.29644G>C , LRG_750:g.29644G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-71G>C
ENST00000687128.1:n.1145-71G>C
ENST00000688002.1:n.929G>C
ENST00000689792.1:n.646-107G>C
ENST00000262948.10:c.706-71G>C MANE Select	ENSP00000262948.4:n.706-71G>C
ENST00000262948.9:c.706-71G>C	ENSP00000262948.3:n.706-71G>C
ENST00000394867.8:c.415-71G>C	ENSP00000378336.1:n.415-71G>C
ENST00000593364.5:n.653-71G>C
ENST00000595715.1:n.450G>C
ENST00000597263.5:n.169+1534G>C
ENST00000599021.1:c.29+1534G>C
ENST00000600584.5:n.1195G>C
ENST00000601786.5:n.1007-71G>C
ENST00000602167.5:n.426-71G>C
NM_030662.3:c.706-71G>C , LRG_750t1:c.706-71G>C	NP_109587.1:n.706-71G>C
XM_006722799.2:c.705+1534G>C	XP_006722862.1:n.705+1534G>C
XM_011528133.1:c.136-71G>C	XP_011526435.1:n.136-71G>C
XM_017026989.1:c.706-71G>C	XP_016882478.1:n.706-71G>C
XM_017026990.1:c.705+1534G>C	XP_016882479.1:n.705+1534G>C
XM_017026991.1:c.*245G>C	XP_016882480.1:n.*245G>C
NM_030662.4:c.706-71G>C MANE Select	NP_109587.1:n.706-71G>C